Variant DetailsVariant: esv23869![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr1:113664475..114702640;width=800;overview=1) Internal ID | 11041102 | Landmark | | Location Information | | Cytoband | 1p13.2 | Allele length | Assembly | Allele length | hg38 | 1038166 | hg19 | 1038166 | hg18 | 1038166 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv11517, esv21206 | Samples | NA12414, NA18523 | Known Genes | AP4B1, AP4B1-AS1, BCL2L15, DCLRE1B, HIPK1, MAGI3, OLFML3, PHTF1, PTPN22, RSBN1, SYT6 | Method | Oligo aCGH | Analysis | Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls. | Platform | Sanger H. Sapiens 42mCGH Array 5781_53 726K v1 | Comments | | Reference | Conrad_et_al_2009 | Pubmed ID | 19812545 | Accession Number(s) | esv23869
| Frequency | Sample Size | 40 | Observed Gain | 0 | Observed Loss | 2 | Observed Complex | 0 | Frequency | n/a |
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